Photo by Micah Baldwin, via Flickr
Photo by Micah Baldwin, via Flickr

My Risk-Benefit Ratio For Personal Genetics

In high school I took a wonderful course in bioethics. We read about the infamous breaches of ethics by Nazi doctors and the Tuskegee syphilis experiment. We watched Gattaca and talked about unintended consequences and worst-case scenarios. The bulk of the course, though, was writing research reports that 1) presented a tricky bioethical question; 2) outlined several reasonable answers; and 3) came down in favor of a particular action. Much to my delight, I found all of my old reports in a file today. My 17-year-old self decided, apparently, that human cloning is bad, cochlear implants are good, and that parents should make decisions about the fate of their premature baby only if the baby has less than 50 percent chance of survival. (WTF?)

Anyway, I’m certainly not an expert in bioethics. (If you’d like to follow a real bioethicist who writes smartly and beautifully, try Kelly Hills.) But I did learn from that high school class a fundamental bioethics concept that has become useful anytime I try to frame a sticky ethical situation: the risk-benefit ratio.

In theory, it’s not complicated: When making decisions regarding human research or medical treatment, risks must be minimized and benefits must outweigh risks. In practice, though, the ratio is often difficult to calculate. Last year I wrote about a 13-year research project comparing the development of Romanian orphans who were raised in orphanages with those who were put into foster care. On the one hand, the researchers were effectively denying foster care (long known in Western countries to be better than institutionalized care) to half of the kids. On the other hand, their study would provide empirical evidence for foster care that the Romanian government could then use for policy changes. In this case, the possible benefits outweighed the risks, and the study was deemed ethical.

The Romanian orphans study was a tough call. The ongoing controversy about consumer genetics tests sold by 23andMe is not a tough call, despite all of the bioethical hoopla surrounding it. It’s a very easy call, with a risk-benefit ratio greatly favoring 23andMe.

To recap recent events: Several weeks ago, the FDA smacked down 23andMe by sending them a cease-and-desist letter. Because of 23andMe’s lack of cooperation with the agency, the company was no longer allowed to sell its spit kits that gave customers (including me) a look at medical information regarding about 1 million DNA markers in their genome. (This pertains only to the medical stuff; the company is still allowed to sell infirmation about ancestry.) In a commentary published in today’s issue of Naturecommentary published in today’s issue of Nature, geneticist Robert Green and legal expert Nita Farahany describe the FDA’s allegations:

The FDA ordered 23andMe, based in Mountain View, California, to “immediately discontinue marketing” its testing kit and personal genome services, which the agency says offer medical advice and so require regulatory approval. “Serious concerns are raised if test results are not adequately understood by patients or if incorrect test results are reported,” the FDA wrote. Notably, it said, genetic results could drive consumers to take extreme steps, such as having unnecessary surgery to prevent cancer. Consumers might also abandon or alter prescribed treatments without consulting health professionals, the letter alleged.

But as Green and Farahany explain in the commentary, these supposed risks are completely unfounded. Several surveys have shown that people do not get overly anxious as a result of finding out their genetic risks. And though some people do, of course, interpret their results incorrectly, this also happens in doctors’ offices every day. Even when customers get genetic results back from 23andMe about gravely serious mutations, it seems they act reasonably. According to Green and Farahany:

The FDA is particularly concerned about how people might respond to learning that they have BRCA gene mutations that increase their risk of breast and ovarian cancers. Early evidence suggests that consumers respond appropriately. In a study carried out by 23andMe, the company sent interview invitations to 136 customers who carried pathogenic mutations. Of the 32 who accepted, 14 men and 11 women had learned for the first time through consumer testing that they carried a high-risk BRCA mutation. All of the women had consulted health-care professionals with their results, and all but one (who elected for surveillance and not surgery) had their tests repeated. Their behaviour after learning this information was no different from that of people who discover these mutations through medical channels.

In my opinion, the risks of consumer genetics tests are minimal. But what about the benefits side of the equation?

As many people have pointed out, the medical relevance of genetic data that customers get from companies like 23andMe is questionable. Last month in the New York Times, a graduate student in bioethics wrote about how different genetic testing companies provided her with very different genetic results. 23andMe told her that her biggest risks were for psoriasis and rheumatoid arthritis, whereas another company, Genetic Testing Laboratories, told her that her lowest risks were for those two conditions. I had similarly confusing results even within the 23andMe service; it told me I have a higher-than-normal risk of melanoma because I carry three particular risk variants, but I also carry a variant that confers a lower-than-normal risk of the disease.

Experts will quibble over the medical value of this or that variant or combinations of variants. For the sake of argument, though, let’s say that the information has absolutely no medical value. Let’s say that every single risk prediction that 23andMe gives me turns out to be just as likely to be wrong as right. Even in that case, I think there’s a huge benefit of personal genomics that is rarely talked about: public education.

Genetic analysis isn’t going anywhere. Quite the contrary — it’s transforming the medical industry. Take, as arbitrary examples, two announcements from the past week. Industry giant Illumina now has a machine that can read entire genomes — that’s all 3 billion letters, as opposed to about a million that 23andMe scans — for $1,000 a piece. The Geisinger Health System in Pennsylvania just launched a research project in which it will collect genetic data from 100,000 patients and try to link it to various diseases and health profiles.

Our genetic information, in other words, is going to be used more and more to determine our medical care. And yet the vast majority of people don’t understand what genes are. They don’t know what genes can and can’t tell us about our future. Because of movies like Gattaca and scare-mongering articles, the average person is more likely to be afraid of their genes than curious. 23andMe, to its credit, explains this science clearly, thoroughly, and accurately, and provides forums for its customers to talk about it in depth. I recently wrote about a woman in rural Virginia who had little training in science but, thanks to her interest in genealogy and 23andMe, is now a chromosome aficionado.

Forcing 23andMe to stop selling its tests is a good way to make the public even more scared of this technology, and perhaps more scared of science and technology in general. And that’s a risk we can’t ignore.